BRIP1 wt Allele

Preferred Label : BRIP1 wt Allele;

NCIt synonyms : BACH1; FANCJ; OF; BRCA1 Interacting Protein C-Terminal Helicase 1 wt Allele; DOG1, Homolog of Gene; Deletions of Guanine-Rich DNA, C. elegans, Homolog of Gene;

NCIt definition : Human BRIP1 wild-type allele is located within 17q22-q24 and is approximately 180 kb in length. This allele, which encodes fanconi anemia group J protein, is involved in the repair of double-strand DNA breaks and is critical for genomic integrity. The allele may be a target of germline cancer-inducing mutations. If the gene is mutated in persons who have Fanconi Anemia, there may be an enhanced risk for the development of breast cancer. As a result, the gene is often identified as a breast cancer susceptibility gene.;

GenBank Accession Number : NM_032043;

Details

Origin ID

C63527;

UMLS CUI

C1879775;

OMIM relation
- Brca1-interacting protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group J [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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